1. New Page 1 Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, Category Health Conditions and Diseases Smith Lemli opitz syndrome...... http://members.aol.com/slo97/

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2. Opitz Syndrome Comprehensive directory featuring general facts, history and treatment options. Offers links and support group details. The SmithLemli-Opitz/RSH syndrome (SLO/RSH) is a genetic disorder that affects the development of children both before http://www.familyvillage.wisc.edu/lib_optz.htm

Opitz Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Opitz Syndrome" Who to Contact Opitz Family Network (OFN) PO Box 516 Grand Lake, Colorado, USA 80447 E-mail: opitznet@rkymtnhi.com See also: Opitz -G, G, BBB, Opitz-Frias, or Hypertelorism-Hypospadias Syndromes. The Opitz Family Network provides families of children with Opitz Syndrome support and encouragement through referrals newsletters and easy to read articles. Their goal is to communicate and share successes and ideas about feeding, surgeries, oral motor and speech therapies, and all the other individual concerns parents have for their special children. They have local support groups, and provide parent matching upon request through a database. OFN Publishes the Opitz Family Newsletter , on an occasional basis and has brochures available that contain information about the network and the syndrome. The Network offers an new parent packet that contains a glossary of terms, descriptions, and the newsletter. Write of phone for further information. Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See

3. EMedicine - Smith-Lemli-Opitz Syndrome : Article By Robert D Steiner, MD An extensive article about Smith-Lemli-opitz syndrome, a multiple congenital anomalies/mental retardation Category Health Conditions and Diseases Smith Lemli opitz syndrome......SmithLemli-opitz syndrome - Smith-Lemli-opitz syndrome (SLOS) is a multiple congenitalanomalies/mental retardation (MCA/MR) syndrome caused by a defect in http://www.emedicine.com/ped/topic2117.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Smith-Lemli-Opitz Syndrome Last Updated: February 5, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthor(s): Laura S Martin, MD , Director of Medical Genetics, Assistant Professor, Department of Pediatrics, Madigan Army Medical Center and University of Washington; Roderick F Hume, MD , Chief, Department of Clinical Investigation, Associate Professor, Department of Obstetrics and Gynecology, Madigan Army Medical Center Robert D Steiner, MD, is a member of the following medical societies:

4. Smith-Lemli-Opitz Syndrome Library S T. Smith-Lemli-opitz syndrome. http://www.familyvillage.wisc.edu/lib_smith-lemli-opitz.htm

Smith-Lemli-Opitz Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Smith-Lemli-Opitz Syndrome" Who to Contact 32 Ivy Lane Glen Mills, PA 19342 E-mail: bhook@erols.com Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It Smith-Lemli-Opitz Syndrome Medline Bibliography Features for Smith-Lemli-Opitz Syndrome Type I Features for Smith-Lemli-Opitz Syndrome Type II Holoprosencephaly in RSH/Smith-Lemli-Opitz Syndrome ... Smith-Lemli-Opitz Syndrome from OMIM Web Sites Smith-Lemli-Opitz Advocacy and Exchange Back to [ S - T Family Village Home Library Coffee Shop ... Information Last Updated May 6, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_smith-lemli-opitz.htm

5. Opitz Syndrome opitz syndrome Information, national and international support groups, clinics with genetic counselors and geneticists opitz syndrome. OpitzG/BBB (Opitz-Frias), Opitz FG (Opitz-Kaveggia), or Opitz-C (Trigonocephaly) syndromes http://www.kumc.edu/gec/support/opitz.html

Opitz syndrome [Opitz-G/BBB (Opitz-Frias), Opitz FG (Opitz-Kaveggia), or Opitz-C (Trigonocephaly) syndromes] Opitz Family Network P.O. Box 516 Grand Lake, CO 80447 USA Phone: 970.627.8935 (Evenings, Weekends and all day most Mondays) E-mail: opitznet@rkymtnhi.com Smith-Lemli-Opitz/RSH syndrome (SLO/RSH) Advocacy and Exchange Syndrome 32 Ivy Lane Glen Mills, PA 19342 Phone: 610.361.9663 E-mail: bhook@erols.com URL: members.aol.com/slo97/index.html Opitz Trigonocephaly Syndrome Family Network (Opitz-C, of the Opitz Family Network) 11758 Biscayne Drive Baton Rouge, LA 70814 E-mail: otsfn@geocities.com Web page: www.geocities.com/HotSprings/Villa/1407/ FG Syndrome E-mail: fgsyndrome@geocities.com Canadian Opitz Family Network P.O. Box 892 Errington, BC Canada V0R 1V0 Phone: 250.954.1434 or 250.954.7524 Email: opitz@apollos.net Web site: www.apollos.net/arena/opitz/home.html Also See: Wide Smiles Cleft Lip and Palate Resource National Support Groups / Lay Advocacy Organizations , resources Locate a Genetic Counselor or Clinical Geneticist: Professional Genetics Societies Genetic clinics, centers, departments

6. Smith-Lemli-Opitz Syndrome Smith Lemli opitz syndrome national and international groups, clinics with genetic counselors and geneticists http://www.kumc.edu/gec/support/smith-le.html

Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz (SLO) Syndrome Network 2650 Valley Forge Drive Boothwyn, PA 19061 Phone: 610.485.9663 E-mail: bhook@erols.com Web site: www.med.unc.edu/~hwaage/SLO.html Opitz Family Network P.O. Box 516 Grand Lake CO 80447 Phone: (970) 627-8935 Fax: (907) 627-8935 E-mail: opitznet@rkymtnhi.com Web site: rkymtnhi.com/opitz/ Opitz Trigonocephaly Syndrome Family Network The Society of Opitz Families Downunder, Inc ., Australia, families dealing with Opitz FG, G/BBB, or C Syndromes Also See: National organizations , genetic conditions or birth defects Smith-Lemli-Opitz Type I features Type II features Smith-Lemli-Opitz , GeneClinics C Syndrome (Opitz Trigonocephaly Syndrome, Trigonocephaly Syndrome), OMIM FG Syndrome Family Alliance, Inc Smith-Lemli-Opitz Syndrome , eMedicine Smith-Lemli-Opitz Syndrome , Kennedy Krieger Institute To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised April 26, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

7. Zach's Opitz Syndrome Site Offers information, a family's experience with this syndrome and links to the Opitz Family Network. http://www.opitzsyndrome.com

Hello and welcome to Zach's Opitz Syndrome Page. This page is dedicated to my sweet son,Zachary, who has Opitz G/BBB Syndrome and his little brother,Henry. This site is aimed at families with newly diagnosed case's of Opitz G Syndrome and anyone else interested in Opitz G Syndrome. I have also included a little about Zach's little brother, Henry. Here is the story of my two sweet kids. Also, please check out the photo's of our recent Opitz Family Syndrome Conference in Denver, Colorado. Thanks! or Picture's of Opitz Family Network Conference 1998!! Picture's of Opitz Family Network Conference 2001!! Pictures of Zach's Cleft Lip Surgery!! A Day in the life of Zach! Information on Opitz Syndrome's. Opitz Family Network Opitz C Syndrome Family Network FG Syndome Family Alliance Family Village ... Many Faces Of Ben! Zach and Henry Please email me if you have any comments, idea's or suggestions. Click here to search Amazon for books on Special Needs, Disabilities, and More. Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: I hope you have enjoyed our family's web site. I would love to add some picture's and profile's of other children with Opitz-G Syndrome. If anyone in the Network would like to add anything to this site, email me. Bookmark this site as I am planning on adding some articles that I did'nt get to share at the conference. Please email if you have any comments, questions or ideas for this site.Thanks for stopping by and come back soon! Charlotte P.

8. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro A description of Opitz G/BBB Syndrome.Category Health Conditions and Diseases opitz syndrome......Definition of Opitz G/BBB Syndrome. Not intended for Diagnosis. The names G and BBBwere combined. Most often now this condition is called Opitz G/BBB syndrome. http://www.apollos.net/arena/opitz/definition.html

Opitz G/BBB Family Connection (Canada) 640 Hunter Place, Mill Bay, British Columbia V0R 2W0 Phone: 250-743-6604 Fax:250-743-6618 E-Mail Definition of Opitz G/BBB Syndrome Not intended for Diagnosis Opitz G/BBB syndrome is known by many syndrome names including: Opitz, Opitz-Frias, G, BBB, and Hypertelorism- hypospadias syndromes. This genetic condition includes a variety of midline anomalies. The degree of involvement among individuals , even within the same family, can vary greatly. Opitz G/BBB syndrome involves midline anomalies. Most often these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis (hypospadias), swallowing defects (dysphagia), an abnormality of the anal opening (imperforate anus), undescended testes (cryptorchidism), and a variety of clefts. Often there is a brain malformation called agenesis of the corpus callosum. In addition to these most common manifestations, there are many other anomalies associated with Opitz G/BBB syndrome. An individual does not have to exhibit each of these to have the diagnosis. These manifestations may include: It is important to prevent aspirations as pneumonias and damage to the lungs may result. Aspiration prevents oxygen from reaching the brain and may be responsible for mental deficiencies. Aspirations may cause death. Alternative feeding methods, including g-tubes are often used.

9. SMITH-LEMLI-OPITZ SYNDROME TYPE I Features Listed For SMITHLEMLI-opitz syndrome TYPE I Abnormal liver (including function) Absent or hypoplastic thumbs/pollices Advanced tooth eruption/development Congenital cardiac anomaly, unspecified Megacolon or Hirschsprung syndrome http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1604

10. Opitz Syndrome (OS) opitz syndrome, the synonyms, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Opitz syndrome (OS) Synonyms Opitz-Frias syndrome autosomal dominant Opitz syndrome (ADOS) BBB syndrome BBBG syndrome BBB/G syndrome BBG syndrome G syndrome GBBB syndrome G/BBB syndrome hypospadias-dysphagia syndrome hypertelorism-hypospadias syndrome oculo-genito-laryngeal syndrome telecanthus-hypospadias syndrome X-linked Opitz syndrome (XLOS) Summary First reported as two separate disorders, the G syndrome and the BBB syndrome, the condition is now considered a single entity with a wide clinical variability, ranging from neonatal lethality to an asymptomatic form. Widely-spaced inner ocular canthi and hypospadias as the major features of this syndrome. Associated disorders may include craniofacial anomalies, congenital heart defects, laryngotracheal disorders with dysphagia and aspiration, developmental delay, and other abnormalities. Most symptoms occur in both genetically determined forms, except for anteverted nares and posterior pharyngeal cleft which are found only in X-linked families. The acronym BBB stands for the initials of the last names of each of the three originally reported families. Opitz described the G syndrome, also named after the affected family, consisting of apparent hypertelorism, mild downslanting of the palpebral fissures, epicanthal folds, hypospadias, and laryngotracheoesophageal defects. Major Features Head and neck: Mild micrognathia, cranial asymmetry, brachycephaly, prominent forehead, open fontanels, prominent metopic suture, and occipital and parietal prominences.

11. NORD - Opitz Syndrome A look at the alternate names, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=82

12. Smith-Lemli-Opitz Syndrome SLO/RSH. The SmithLemli-Opitz/RSH syndrome (SLO/RSH) is a genetic disorderthat affects the development of children both before and after birth. http://members.aol.com/slo97/main.htm

SLO/RSH The Smith-Lemli-Opitz/RSH syndrome Diagnosis In addition to growth retardation and developmental delay, many different malformations have been described in SLO/RSH. The most common defects are: - Microcephaly (small head) - Extra fingers or toes - Apparently low-set ears - Small, upturned nose - Webbing between 2nd and 3rd toes - Abnormal palmar creases (usually single) - Cleft palate - Hypospadias (genital malformation in boys) - Cataracts - Undescended testicles - Blepharoptosis (drooping eyelids) - Heart defects - Micrognathia (small chin) - Pyloric stenosis - Short thumbs - Hirschsprung disease (absent nerves in colon) Some children will have only one or two minor malformations, such as webbing of the toes and cleft soft palate, whereas others will have almost all of the defects listed above. Because of the possibility of internal malformations, patients with SLO/RSH should be evaluated carefully at birth, especially for heart and kidney defects. Often, children with SLO/RSH resemble one another more than others in their families. Whereas prior to 1993 the diagnosis of SLO/RSH rested entirely on the clinical judgment of a geneticist or other specialist, a biochemical test for abnormal cholesterol metabolism is now used to confirm a suspected diagnosis of SLO/RSH. Natural History Most children with SLO/RSH have feeding problems and "failure-to-thrive." Common feeding problems include trouble sucking and swallowing because of weakness, cleft palate, microgastria (abnormally small stomach), reflux, persistent vomiting, and pyloric stenosis. Other causes of failure-to-thrive may be internal malformations such as heart and kidney defects, Hirschsprung disease, or, more rarely, chronic liver disease. However, even children who are vigorous and feed well do not grow normally and tend to be small as children and adults. Almost all SLO/RSH children are born with small brains and have various degrees of slow development and mental retardation. Although not all children with SLO/RSH learn to walk and talk, many acquire good language and can learn skills. However, independent living as adults is unlikely. Lifespan can be limited by serious internal malformations, but with good nutrition and medical care, a normal lifespan is possible.

13. NORD - Smith Lemli Opitz Syndrome Offers a brief description, the synonyms and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

14. GeneReviews: Smith-Lemli-Opitz Syndrome Your browser does not support HTML frames so you must view SmithLemli-opitz syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/slo/

Your browser does not support HTML frames so you must view Smith-Lemli-Opitz Syndrome in a slightly less readable form. Please follow this link to do so.

15. Smith-Lemli-Opitz Syndrome Seattle. SmithLemli-opitz syndrome. RSH Syndrome, SLO Syndrome, SLOS Table1. Molecular Genetic Testing in Smith-Lemli-opitz syndrome. % of http://www.geneclinics.org/profiles/slo/details.html

Smith-Lemli-Opitz Syndrome [RSH Syndrome, SLO Syndrome, SLOS] Author: Christopher M Cunniff, MD, FACMG University of Arizona College of Medicine Initial Posting: 13 November 1998 Last Update 6 November 2001 Summary Disease characteristics. Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe mental retardation, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, post-axial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations. Diagnosis/testing. The diagnosis of SLOS relies upon clinical suspicion and detection of elevated serum concentration of 7-dehydrocholesterol (7-DHC) or an elevated 7-dehydrocholesterol:cholesterol ratio. Although serum concentration of cholesterol is usually low, it may be in the normal range in about 10% of patients, making it an unreliable test for screening and diagnosis. DNA analysis for mutations of the gene (chromosomal locus 11q12-q13) is available on a clinical basis and is used primarily for carrier detection and prenatal diagnosis.

16. Smith- Lemli-Opitz Syndrome of Disorder.......Clinical Mass Spectrometry Laboratory. Kennedy Krieger Institute. 707 North Broadway.Baltimore, Md. 21205. SmithLemli-opitz syndrome http://www.med.jhu.edu/CMSL/SLOS.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Md. 21205 Smith-Lemli-Opitz Syndrome Description of Disorder Bibliography with Abstracts Prenatal Diagnosis Background and Instructions Sample Submission Form Related Links SLO/RSH Advocacy and Exchange

17. Zach's Opitz Syndrome Site! Kids on the train! Zach at the Talent Show Zach and Watermelon! Zach and Henry atthe picnic! Clark with the Hockey Mascot! Back to Zach's opitz syndrome Page. http://www.opitzsyndrome.com/index2001.htm

All these pictures were taken during the conference, or at the park during the picnic. This takes a few minutes to load, so please be patient. Kids on the train! Zach at the Talent Show Zach and Watermelon! Zach and Henry at the picnic! Clark with the Hockey Mascot! Back to Zach's Opitz Syndrome Page

18. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro Synonyms It is possible that opitz syndrome may not be the name that you expected. OpitzSyndrome is a genetic disorder that may be evident at birth. http://www.apollos.net/arena/opitz/nord_description.html

Opitz G/BBB Family Connection (Canada) 640 Hunter Place, Mill Bay, British Columbia V0R 2W0 Phone: 250-743-6604 Fax:250-743-6618 E-Mail NORD Description of Opitz G/BBB Syndrome Synonyms It is possible that Opitz Syndrome may not be the name that you expected. Your physician may have given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder. BBBG Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Hypertelorism-Hypospadias Syndrome Hypospadias-Dysphagia Syndrome Opitz BBB Syndrome Opitz BBB/G Compound Syndrome Opitz BBBG Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Opitz-Frias Syndrome Telecanthus-Hypospadias Syndrome Disorder Subdivisions: G Syndrome BBB Syndrome (Opitz) Abstract (General Discussion) The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case. Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).

19. Special Child: Disorder Zone Archives - Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome Chase Woodward. Abigail was born on February 22, 1999and within days was diagnosed with Smith-Lemli-opitz syndrome, or SLOS. http://www.specialchild.com/archives/dz-030.html

Disorder Zone Archives Smith-Lemli-Opitz Syndrome Chase Woodward Abigail Roberts Introduction Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder characterized by psychomotor and growth retardation, cleft palate, polydactyly, syndactyly, and a distinctive craniofacial appearance. SLOS is an inherited autosomal recessive disorder, which means that those with SLOS have inherited the defective gene from both parents. Couples who have one affected child have a 25% risk of having a child with SLOS in each pregnancy. For those individuals who already have a child with SLOS, prenatal testing is available for subsequent pregnancies. It is now estimated that SLOS occurs in 1 out of every 10,000 to 20,000 live births. This rate may be underestimated, however, because the recognition of SLOS in mildly affected patients, where only a few abnormalities are found, can be difficult. In addition, some individuals may have separate malformations that disrupt the diagnostically important facial characteristics. It does appear, however, that there is a higher frequency of SLOS in individuals of northern European ancestry and a lower frequency in people of Asian or African background. Features and Characteristics The following characteristics have been seen in more than 50% of patients: Microcephaly Blepharoptosis (drooping of the upper eyelids) Cleft palate Postnatal growth retardation Syndactyly of toes (webbing between toes) Mental retardation Hypospadias (developmental anomaly involving the urethra)

20. Special Child: Disorder Zone Archives Syndrome PraderWilli Syndrome Rett Syndrome Rubinstein-Taybi Syndrome SanfilippoSyndrome Septo-Optic Dysplasia Smith-Lemli-opitz syndrome Smith-Magenis http://www.specialchild.com/disorder.html

Disorder Zone Archives Angelman Syndrome Apert Syndrome Arthrogryposis Multiplex Congenita Asperger Syndrome ... Williams Syndrome The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider. Welcome Editor's Note Success Stories Horror Stories ... The Resource Foundation for Children with Challenges By using Special Child and related services, you agree to abide by the terms and conditions

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